Variant report

Variant	esv1804059
Chromosome Location	chr4:48719424-48726266
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:48725723..48728772-chr4:48781699..48784072,3	MCF-7	breast:
2	chr4:48722783..48724508-chr4:48831559..48833358,2	MCF-7	breast:
3	chr4:48720217..48721926-chr4:48727442..48730398,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000075539	chromatin interactions
ENSG00000109180	chromatin interactions

Extended variants
information (count: 224 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:224 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550740880	chr4:48719436-48719437	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs190561992	chr4:48719490-48719491	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs536313046	chr4:48719497-48719498	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577953879	chr4:48719559-48719560	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs555054101	chr4:48719598-48719599	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs566706118	chr4:48719600-48719601	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs148662300	chr4:48719619-48719620	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs559030529	chr4:48719638-48719639	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs577191369	chr4:48719689-48719690	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs142876373	chr4:48719701-48719702	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs6447654	chr4:48719813-48719814	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs563755450	chr4:48719826-48719827	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs541515793	chr4:48719849-48719850	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs560192586	chr4:48719850-48719851	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs75628550	chr4:48719950-48719951	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs183004055	chr4:48719957-48719958	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs561319586	chr4:48720037-48720038	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs563766988	chr4:48720046-48720047	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs187684583	chr4:48720061-48720062	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs193300670	chr4:48720062-48720063	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs530317404	chr4:48720121-48720122	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs182381911	chr4:48720161-48720162	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs566946715	chr4:48720164-48720165	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs955683	chr4:48720194-48720195	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs71595613	chr4:48720219-48720220	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs552579725	chr4:48720257-48720258	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs151050776	chr4:48720276-48720277	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs187873335	chr4:48720353-48720354	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs192608985	chr4:48720388-48720389	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs541894609	chr4:48720407-48720408	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs574692001	chr4:48720450-48720451	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs184944631	chr4:48720474-48720475	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs553721908	chr4:48720501-48720502	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs572085593	chr4:48720506-48720507	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs140735363	chr4:48720529-48720530	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs144652534	chr4:48720559-48720560	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs62309750	chr4:48720564-48720565	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs575642211	chr4:48720576-48720577	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs544455300	chr4:48720590-48720591	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs563193831	chr4:48720601-48720602	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs188801655	chr4:48720618-48720619	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs147870702	chr4:48720635-48720636	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs557713648	chr4:48720636-48720637	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs78282941	chr4:48720666-48720667	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs527755798	chr4:48720681-48720682	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs115097924	chr4:48720733-48720734	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs954608	chr4:48720783-48720784	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs538242312	chr4:48720787-48720788	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs192061115	chr4:48720851-48720852	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs76858180	chr4:48720872-48720873	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Basal cell lymphoma	21115979	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Breast cancer	16272173	CNVD

Chromatin state (count:213 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48621200-48729400	Weak transcription	Thymus	Thymus
2	chr4:48700200-48730800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:48700600-48719600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:48701000-48729600	Weak transcription	Aorta	Aorta
5	chr4:48701800-48724600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr4:48702800-48720800	Weak transcription	Small Intestine	intestine
7	chr4:48703400-48722800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr4:48705600-48728800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr4:48707400-48720800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr4:48709000-48720200	Weak transcription	HepG2	liver
11	chr4:48709000-48723600	Weak transcription	Left Ventricle	heart
12	chr4:48709000-48724600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr4:48709000-48726400	Weak transcription	Ovary	ovary
14	chr4:48711200-48720600	Weak transcription	Fetal Intestine Small	intestine
15	chr4:48711800-48724400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr4:48712000-48723200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr4:48712200-48724000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr4:48712200-48724400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr4:48712400-48719600	Weak transcription	Brain Substantia Nigra	brain
20	chr4:48712400-48721000	Weak transcription	Liver	Liver
21	chr4:48712400-48721000	Weak transcription	Brain Anterior Caudate	brain
22	chr4:48712400-48727200	Weak transcription	HSMM	muscle
23	chr4:48712600-48719600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr4:48712600-48724000	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr4:48712600-48724600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr4:48712800-48724400	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr4:48712800-48727800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr4:48712800-48728200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr4:48712800-48731000	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr4:48713000-48720800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr4:48713000-48720800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr4:48713000-48724000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr4:48713000-48724200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr4:48713000-48724800	Weak transcription	NHEK	skin
35	chr4:48713000-48725200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr4:48713000-48727800	Weak transcription	HMEC	breast
37	chr4:48713000-48728200	Weak transcription	Primary B cells from cord blood	blood
38	chr4:48713000-48728200	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr4:48713200-48724200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr4:48713200-48724400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr4:48716000-48724000	Weak transcription	Brain Hippocampus Middle	brain
42	chr4:48718600-48721400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
43	chr4:48718800-48719600	Strong transcription	Primary T cells from cord blood	blood
44	chr4:48719000-48724000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr4:48719400-48720000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr4:48719400-48720000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr4:48719400-48720200	ZNF genes & repeats	Dnd41	blood
48	chr4:48719600-48719800	ZNF genes & repeats	Primary T cells from cord blood	blood
49	chr4:48719600-48720000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr4:48719600-48720000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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